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rs2075291

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(A;A) >4x higher risk for high triglyceride levels in Asians
(A;C) 4x higher risk for high triglyceride levels in Asians
(C;C) 0 normal
Make rs2075291(G;G)
Make rs2075291(G;T)
Make rs2075291(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position116790676
GeneAPOA5
is asnp
is mentioned by
dbSNPrs2075291
ebirs2075291
HLIrs2075291
Exacrs2075291
Varsomers2075291
Maprs2075291
PheGenIrs2075291
hapmaprs2075291
1000 genomesrs2075291
hgdprs2075291
ensemblrs2075291
gopubmedrs2075291
geneviewrs2075291
scholarrs2075291
googlers2075291
pharmgkbrs2075291
gwascentralrs2075291
openSNPrs2075291
23andMers2075291
23andMe allrs2075291
SNP Nexus

SNPshotrs2075291
SNPdbers2075291
MSV3drs2075291
GWAS Ctlgrs2075291
GMAF0.01194
Max Magnitude0
? (G;G) (G;T) (T;T) 28
SNP rs2075291 represents a glycine to cysteine substitution at amino acid 185 of the APOA5 protein; it is also known as p.185Gly>Cys or c.553G>T.

In both Chinese and non-Chinese Asians, the A allele (leading to the cysteine) is associated with higher risk for hypertriglyceridemia. The odds ratio is 4.45 (CI: 2.18-9.07, p<0.001). Heterozygosity was associated with a doubling of triglyceride levels, and all (11) rs2075291(A;A) homozygotes (as oriented relative to dbSNP, not as published) had severe hypertriglyceridemia (mean triglyceride level of 2292 +/- 447 mg/dl).[PMID 18441017OA-icon.png]


[PMID 19732897] Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese

OMIM606368
Desc
Variant0001
Relatedalso


ClinVar
Risk rs2075291(A,T;A,T)
Alt rs2075291(A,T;A,T)
Reference rs2075291(G;G)
Significance Other
Disease Hypertriglyceridemia
Variation info
Gene APOA5
CLNDBN Hypertriglyceridemia, susceptibility to
Reversed 1
HGVS NC_000011.9:g.116661392C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004652.2,



[PMID 19041386OA-icon.png] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.


[PMID 21423763OA-icon.png] Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.


[PMID 22517333] Associations of apolipoprotein A5 (APOA5), glucokinase (GCK) and glucokinase regulatory protein (GCKR) polymorphisms and lifestyle factors with the risk of dyslipidemia and dysglycemia in Japanese - a cross-sectional data from the J-MICC Study.


[PMID 22924697] Interactions between the apolipoprotein a1/c3/a5 haplotypes and alcohol consumption on serum lipid levels.


[PMID 23065249] Apolipoprotein A5 polymorphisms in Turkish population: association with serum lipid profile and risk of ischemic stroke.


[PMID 23178747] Overweight modulates APOE and APOA5 alleles on the risk of severe hypertriglyceridemia.


[PMID 26824674] Interactions of Environmental Factors and APOA1-APOC3-APOA4-APOA5 Gene Cluster Gene Polymorphisms with Metabolic Syndrome.